Juliana Faggion Lucatelli, Alessandra Chiele Barros
Bacharel em Biomedicina (Feevale).
Sharbel Weidner Maluf
Licenciado em Ciências Biológicas, mestre e doutor em Genética e Biologia Molecular pela UFRGS
Fabiana Michelsen de Andrade
Licenciada em Ciências Biológicas, mestre e doutora em Genética e Biologia Molecular pela Universidade Federal do Rio Grande do Sul(UFRGS)
Abstract:
Background: Early onset Alzheimer´s disease (EOAD) represents 5% of all cases of Alzheimer´s disease, and it is connected to genic mutations.Objectives: To present the influence of genic mutations in EOAD. Methods: Review of current literature, starting from 1992, utilizing the PubMed data bank. Results: The E*4 allele of the apolipoprotein E gene interferes in EOAD. In the gene of the Amyloid Precursor Protein, 20 mutations were described, causing 10% to 15% of the cases of EOAD. Mutations in the gene of presenilins 1 and 2 cause 30% to 70% of the cases of EOAD. In PSN1 gene, 30 aminoacid change mutations and 3 insertions/deletions are known. In the PSEN2 gene, there are 6 aminoacid change mutations. Only one mutation in the MAPT gene is selectively associated with Alzheimer’s disease. Conclusions: The use of genetic information for early detection of possible pacients of EOAD is still very limited. Genetic heterogeneity is broad. Some mutations described in this review were responsible for Alzheimer’s disease only in a few families. The clinical utilization of these methods for screening individuals at risk for EOAD still asks for caution.
Keywords:Early onset Alzheimer’s disease, apolipoprotein E, presenilins 1 and 2, amyloid precursor protein, TAU protein.